The variants below are all in the GDAP1 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change (cDNA) field indicates that more variants were found in this patient. Variants reported in a gene database other than GDAP1, are reported as the gene symbol with the number of reported variants between parenthesis.Selecting and clicking a specific line will open a detailed view showing all details per patient.At the bottom of this page a legend is provided with a short explanation of what each field contains.For a more detailed description of each field, please see the GDAP1 full legend here.

MFN2:p.[T236M] in heterozygous state
MFN2:p.[T236M] was also found in the probandĺs asymptomatic mother and grandfather with adult onset neuropathy while GDAP1 mutation was absent in the parents and authors hypothesized a de novo event or a germline mosaicism in a parent